Canonical Allele Identifier: CA358477513

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.153710412A>G , CM000666.2:g.153710412A>G GRCh38
NC_000004.11:g.154631564A>G , CM000666.1:g.154631564A>G GRCh37
NC_000004.10:g.154851014A>G NCBI36
NG_016386.1:g.54824T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347063.9:c.944T>C (RNF175) MANE Select ENSP00000340979.4:p.Ile315Thr
ENST00000347063.8:c.944T>C (RNF175) ENSP00000340979.4:p.Ile315Thr
NM_173662.2:c.944T>C (RNF175) NP_775933.1:p.Ile315Thr
XM_005262938.2:c.842T>C (RNF175) XP_005262995.1:p.Ile281Thr
XM_005262939.2:c.704T>C (RNF175) XP_005262996.1:p.Ile235Thr
XM_005262940.3:c.701T>C (RNF175) XP_005262997.1:p.Ile234Thr
XM_011531879.1:c.848T>C (RNF175) XP_011530181.1:p.Ile283Thr
XM_011531880.1:c.824T>C (RNF175) XP_011530182.1:p.Ile275Thr
XM_011531881.1:c.824T>C (RNF175) XP_011530183.1:p.Ile275Thr
XM_011531883.1:c.728T>C (RNF175) XP_011530185.1:p.Ile243Thr
XM_011531884.1:c.680T>C (RNF175) XP_011530186.1:p.Ile227Thr
XM_011531885.1:c.704T>C (RNF175) XP_011530187.1:p.Ile235Thr
XM_005262938.3:c.842T>C (RNF175) XP_005262995.1:p.Ile281Thr
XM_005262939.3:c.704T>C (RNF175) XP_005262996.1:p.Ile235Thr
XM_005262940.4:c.701T>C (RNF175) XP_005262997.1:p.Ile234Thr
XM_011531879.2:c.848T>C (RNF175) XP_011530181.1:p.Ile283Thr
XM_011531881.2:c.824T>C (RNF175) XP_011530183.1:p.Ile275Thr
XM_011531883.2:c.728T>C (RNF175) XP_011530185.1:p.Ile243Thr
XM_011532215.2:c.*5150A>G (TLR2) XP_011530517.1:n.*5150A>G
XM_011532216.2:c.*5150A>G (TLR2) XP_011530518.1:n.*5150A>G
XM_017008047.1:c.647T>C (RNF175) XP_016863536.1:p.Ile216Thr
XM_017008573.1:c.*5150A>G (TLR2) XP_016864062.1:n.*5150A>G
XM_017008574.1:c.*5150A>G (TLR2) XP_016864063.1:n.*5150A>G
XM_017008575.1:c.*5150A>G (TLR2) XP_016864064.1:n.*5150A>G
XM_017008576.1:c.*5150A>G (TLR2) XP_016864065.1:n.*5150A>G
NM_173662.4:c.944T>C (RNF175) MANE Select NP_775933.2:p.Ile315Thr